{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,8]],"date-time":"2026-09-08T11:29:49Z","timestamp":1788866989705,"version":"build-2803163510"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2016,11,26]],"date-time":"2016-11-26T00:00:00Z","timestamp":1480118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Baylor College of Medicine Intellectual and Developmental Disabilities Research Center","award":["HD024064"],"award-info":[{"award-number":["HD024064"]}]},{"name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"name":"NIH","award":["U54HG003273"],"award-info":[{"award-number":["U54HG003273"]}]},{"name":"NIH","award":["U54 U54HG006542"],"award-info":[{"award-number":["U54 U54HG006542"]}]},{"name":"NIH","award":["T32 GM07526"],"award-info":[{"award-number":["T32 GM07526"]}]},{"name":"NIH","award":["NIH K08DK106453"],"award-info":[{"award-number":["NIH K08DK106453"]}]},{"name":"NIH","award":["NICHD P01 HD070394"],"award-info":[{"award-number":["NICHD P01 HD070394"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD \u201cSutcliffe\u201d type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture\u2010like lesions, and metaphyseal abnormalities with sparing of the epiphyses. The molecular basis for this disorder has yet to be clarified. We describe two patients with SMD corner fracture type and heterozygous pathogenic variants in <jats:italic>COL2A1<\/jats:italic>. These two cases together with a third case of SMD corner fracture type with a heterozygous <jats:italic>COL2A1<\/jats:italic> pathogenic variant previously described suggest that this disorder overlaps with type II collagenopathies. The finding of one of the pathogenic variants in a previously reported case of spondyloepimetaphyseal dysplasia (SEMD) Strudwick type and the significant clinical similarity suggest an overlap between SMD corner fracture and SEMD Strudwick types. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38059","type":"journal-article","created":{"date-parts":[[2016,11,26]],"date-time":"2016-11-26T16:56:54Z","timestamp":1480179414000},"page":"733-739","source":"Crossref","is-referenced-by-count":13,"title":["Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies"],"prefix":"10.1002","volume":"173","author":[{"given":"Keren","family":"Machol","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahim","family":"Jain","sequence":"additional","affiliation":[{"name":"Department of Molecular and 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